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COL4A5 c.1390G>A
ALS1
DMD c.1332-11868C>G
TP53
肌萎缩侧索硬化症1型
USH2A c.8559-2A>G
囊性纤维化
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中文
罕见病
Progressive Bulbar Palsy
Alias:
Bulbar Palsy, Progressive
Pbp - [progressive Bulbar Palsy]
Supranuclear Bulbar Paralysis
Progressive Bulbar Paralysis
Chronic Bulbar Paralysis
Chronic Bulbar Palsy
Bulbar Paralysis
Bulbar Palsy
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基础信息
疾病表征
基因 & 突变
靶点药物
疾病模型
文献报道
进行性延髓麻痹,又称延髓麻痹、进行性,与布朗-维拉托-范拉尔综合征1和法佐-朗多病有关。与进行性延髓麻痹相关的重要基因是SLC52A3(溶质载体家族52成员3),其相关通路/超级通路包括代谢和水溶性维生素和辅因子的代谢。相关组织包括脊髓和舌,相关表型为行为/神经系统和死亡/衰老。
Related ID:
MALACARDS:PRG007
MESH:D010244
ICD11:1143049440
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
--
未知
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18
154
--
PRG007
Medical Symptom
#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available
Gene & Mutation
#
Gene
Function
Score
Mutations
No data available
Related Drugs
Name
CAS Number
Status
Phase
No data available
Disease Model
Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available
References Literature
Title
PMID
Journal
Year
IF
No Data Found!
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